Canonical Allele Identifier: CA2586972731

Gene: BAP1

Linked Data

• gnomAD v4: 3-52403173-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403174dup , CM000665.2:g.52403174dup	GRCh38
NC_000003.11:g.52437190dup , CM000665.1:g.52437190dup	GRCh37
NC_000003.10:g.52412230dup	NCBI36
NG_031859.1:g.11820dup , LRG_529:g.11820dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1854dup MANE Select	ENSP00000417132.1:p.Gly619TrpfsTer24
ENST00000296288.9:c.1800dup	ENSP00000296288.5:p.Gly601TrpfsTer24
ENST00000460680.5:c.1854dup	ENSP00000417132.1:p.Gly619TrpfsTer24
ENST00000466093.1:n.261dup
ENST00000469613.5:c.120-333dup
ENST00000478368.1:c.357dup	ENSP00000420647.1:p.Gly120TrpfsTer?
NM_004656.3:c.1854dup	NP_004647.1:p.Gly619TrpfsTer24
XM_011534149.1:c.1854dup	XP_011532451.1:p.Gly619TrpfsTer?
XM_011534150.1:c.1845+9dup	XP_011532452.1:n.1845+9dup
XM_011534151.1:c.1800dup	XP_011532453.1:p.Gly601TrpfsTer?
XM_011534152.1:c.1845+9dup	XP_011532454.1:n.1845+9dup
XM_011534149.3:c.1854dup	XP_011532451.1:p.Gly619TrpfsTer?
XM_011534150.3:c.1845+9dup	XP_011532452.1:n.1845+9dup
XM_011534151.3:c.1800dup	XP_011532453.1:p.Gly601TrpfsTer?
XM_011534152.2:c.1845+9dup	XP_011532454.1:n.1845+9dup
XM_017007303.2:c.1800dup	XP_016862792.1:p.Gly601TrpfsTer24
NM_004656.4:c.1854dup MANE Select	NP_004647.1:p.Gly619TrpfsTer24